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目的调查听力障碍儿童基因突变情况,明确耳聋基因筛查可行性。方法对53名听力障碍儿童进行遗传性聋病问卷调查、听力学评估,耳聋基因检测。以末梢静脉血提取DNA,对GJB2、SLC26A4、GJB3和mtDNA12srRNA四个耳聋相关基因的20个致聋突变位点进行检测。结果 53例儿童中13例(24.53%,13/53)检测到突变基因,GJB2基因突变7例,其中235delC纯合突变1例(1.89%),235delC杂合突变5例(9.43%),235delC/299_300delAT复合杂合突变1例(1.89%);SLC26A4基因突变6例(11.32%),其中IVS7-2A>G纯合突变1例(1.89%),IVS7-2A>G杂合突变3例(5.66%),2168A>G杂合突变1例(1.89%),2168A>G纯合突变1例(1.89%);未检出GJB3和线粒体12SrRNA基因突变。结论听力障碍儿童存在较高的遗传性耳聋发生率,主要突变基因为GJB2、SLC26A4;通过耳聋基因检测,可明确病因,指导聋儿康复、评估耳聋预后有积极效果。
Objective To investigate the gene mutation in children with hearing impairment and to clarify the feasibility of genetic screening for deafness. Methods Fifty-three children with hearing impairment were investigated for hereditary deafness, audiological assessment and deafness gene testing. DNA was extracted from peripheral venous blood and 20 deafness-mutated sites of four deafness-related genes of GJB2, SLC26A4, GJB3 and mtDNA12srRNA were detected. Results Of the 53 children, 13 (24.53%, 13/53) had mutations in the GJB2 gene, of which 7 cases were GJB2 gene mutation, including 235delC homozygous mutation in 1 case (1.89%), 235delC heterozygous mutation in 5 cases (9.43%), 235delC / 299_300delAT complex heterozygous mutation in 1 case (1.89%); SLC26A4 gene mutation in 6 cases (11.32%), including IVS7-2A> G homozygous mutation in 1 case (1.89%), IVS7-2A> G heterozygous mutation in 3 cases 5.66%), 1 case of 2168A> G heterozygous mutation (1.89%) and 1 case of 2168A> G homozygous mutation (1.89%). No mutation of GJB3 and mitochondrial 12SrRNA gene was detected. Conclusions There is a high prevalence of hereditary deafness in children with hearing impairment. The major mutations are GJB2 and SLC26A4. Deafness gene testing can confirm the cause, guide the rehabilitation of deaf children and evaluate the prognosis of deafness.